دورية أكاديمية
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil
العنوان: | Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil |
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المؤلفون: | Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani |
المصدر: | Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017) |
بيانات النشر: | Elsevier, 2017. |
سنة النشر: | 2017 |
المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
مصطلحات موضوعية: | Lysosomal storage diseases, Newborn screening, Confirmatory diagnosis, Carrier, Pseudodeficiency, Brazil, Medicine (General), R5-920, Biology (General), QH301-705.5 |
الوصف: | Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening. We present here the methods and results of the additional investigation performed in four babies with positive initial screening results in a program of NBS for LSDs performed by a private laboratory in over 10,000 newborns in Brazil. The suspicion in these cases was of Mucopolysaccharidosis I - MPS I (in two babies), Pompe disease and Gaucher disease (one baby each). One case of pseudodeficiency for MPS I, 1 carrier for MPS I, 1 case of pseudodeficiency for Pompe disease and 1 carrier for Gaucher disease were identified. This report illustrates the challenges that may be encountered by NBS programs for LSDs, and the need of a comprehensive protocol for the rapid and precise investigation of the babies who have an abnormal screening result. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 2214-4269 |
Relation: | http://www.sciencedirect.com/science/article/pii/S2214426917300617; https://doaj.org/toc/2214-4269 |
DOI: | 10.1016/j.ymgmr.2017.06.006 |
URL الوصول: | https://doaj.org/article/a2fe1b980788428984281a4eabc80911 |
رقم الأكسشن: | edsdoj.2fe1b980788428984281a4eabc80911 |
قاعدة البيانات: | Directory of Open Access Journals |
تدمد: | 22144269 |
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DOI: | 10.1016/j.ymgmr.2017.06.006 |